Ran Xia, Li Jinchen, Shao Qianzhi, Chen Huiqian, Lin Zhongdong, Sun Zhong Sheng, Wu Jinyu
Institute of Genomic Medicine, Wenzhou Medical University, Wenzhou 325000, China.
Department of Pediatric Neurology, The Second Affiliated & Yuying Children's Hospital, Wenzhou Medical University, Wenzhou 325000, China.
Nucleic Acids Res. 2015 Jan;43(Database issue):D893-9. doi: 10.1093/nar/gku943. Epub 2014 Oct 16.
Epilepsy is one of the most prevalent chronic neurological disorders, afflicting about 3.5-6.5 per 1000 children and 10.8 per 1000 elderly people. With intensive effort made during the last two decades, numerous genes and mutations have been published to be associated with the disease. An organized resource integrating and annotating the ever-increasing genetic data will be imperative to acquire a global view of the cutting-edge in epilepsy research. Herein, we developed EpilepsyGene (http://61.152.91.49/EpilepsyGene). It contains cumulative to date 499 genes and 3931 variants associated with 331 clinical phenotypes collected from 818 publications. Furthermore, in-depth data mining was performed to gain insights into the understanding of the data, including functional annotation, gene prioritization, functional analysis of prioritized genes and overlap analysis focusing on the comorbidity. An intuitive web interface to search and browse the diversified genetic data was also developed to facilitate access to the data of interest. In general, EpilepsyGene is designed to be a central genetic database to provide the research community substantial convenience to uncover the genetic basis of epilepsy.
癫痫是最常见的慢性神经系统疾病之一，每1000名儿童中约有3.5 - 6.5人患病，每1000名老年人中约有10.8人患病。在过去二十年中，经过大量努力，已发表了许多与该疾病相关的基因和突变。整合和注释不断增加的遗传数据的有组织资源对于全面了解癫痫研究的前沿进展至关重要。在此，我们开发了癫痫基因数据库（EpilepsyGene，网址：http://61.152.91.49/EpilepsyGene）。它包含了截至目前从818篇出版物中收集的与331种临床表型相关的499个基因和3931个变异。此外，还进行了深入的数据挖掘，以深入了解这些数据，包括功能注释、基因优先级排序、优先级基因的功能分析以及针对共病的重叠分析。还开发了一个直观的网络界面来搜索和浏览多样化的遗传数据，以方便获取感兴趣的数据。总体而言，癫痫基因数据库旨在成为一个核心遗传数据库，为研究界提供极大便利，以揭示癫痫的遗传基础。
